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Human Molecular Genetics Volume 16 Issue 3

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Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor

Ali, Asif; Christie, Paul T.; Grigorieva, Irina V.; Harding, Brian; Van Esch, Hilde; Ahmed, S. Faisal; Bitner-Glindzicz, Maria; Blind, Eberhard; Bloch, Catherine; Christin, Patricia; Clayton, Peter; Gecz, Jozef; Gilbert-Dussardier, Brigitte; Guillen-Navarro, Encarna; Hackett, Anna; Halac, Isil; Hendy, Geoffrey N.; Lalloo, Fiona; Mache, Christoph J.; Mughal, Zulf; Ong, Albert C.M.; Rinat, Choni; Shaw, Nicholas; Smithson, Sarah F.; Tolmie, John; Weill, Jacques; Nesbit, M. Andrew; Thakker, Rajesh V.

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Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y

Jobling, Mark A.; Lo, Iek Chi C.; Turner, Daniel J.; Bowden, Georgina R.; Lee, Andrew C.; Xue, Yali; Carvalho-Silva, Denise; Hurles, Matthew E.; Adams, Susan M.; Chang, Yuet Meng; Kraaijenbrink, Thirsa; Henke, Jürgen; Guanti, Ginevra; McKeown, Brian; van Oorschot, Roland A.H.; Mitchell, R. John; de Knijff, Peter; Tyler-Smith, Chris; Parkin, Emma J.

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The 22q11 deletion syndrome candidate gene Tbx1 determines thyroid size and positioning

Fagman, H.; Liao, J.; Westerlund, J.; Andersson, L.; Morrow, B.E.; Nilsson, M.

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Sex-specific linkage to total serum immunoglobulin E in families of children with asthma in Costa Rica

Raby, Benjamin A.; Soto-Quiros, Manuel E.; Avila, Lydiana; Lake, Stephen L.; Murphy, Amy; Liang, Catherine; Fournier, Eduardo; Spesny, Mitzi; Sylvia, Jody S.; Verner, Andrei; Hudson, Thomas J.; Klanderman, Barbara J.; Freimer, Nelson B.; Silverman, Edwin K.; Celedón, Juan C.

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Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour

Sparago, Angela; Russo, Silvia; Cerrato, Flavia; Ferraiuolo, Serena; Castorina, Pierangela; Selicorni, Angelo; Schwienbacher, Christine; Negrini, Massimo; Ferrero, Giovanni Battista; Silengo, Margherita Cirillo; Anichini, Cecilia; Larizza, Lidia; Riccio, Andrea

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SGCE missense mutations that cause myoclonus-dystonia syndrome impair ϵ-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA

Esapa, Christopher T.; Waite, Adrian; Locke, Matthew; Benson, Matthew A.; Kraus, Michaela; McIlhinney, R.A. Jeffrey; Sillitoe, Roy V.; Beesley, Philip W.; Blake, Derek J.

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A CTCF-binding silencer regulates the imprinted genes AWT1 and WT1-AS and exhibits sequential epigenetic defects during Wilms' tumourigenesis

Hancock, Anne L.; Brown, Keith W.; Moorwood, Kim; Moon, Hanlim; Holmgren, Claes; Mardikar, Sudhanshu H.; Dallosso, Anthony R.; Klenova, Elena; Loukinov, Dmitri; Ohlsson, Rolf; Lobanenkov, Victor V.; Malik, Karim

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Age-dependent accumulation of mtDNA mutations in murine hematopoietic stem cells is modulated by the nuclear genetic background

Yao, Yong-Gang; Ellison, Felicia M.; McCoy, J. Philip; Chen, Jichun; Young, Neal S.

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Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia

Sundar, Purnima Desai; Yu, Chang-En; Sieh, Weiva; Steinbart, Ellen; Garruto, Ralph M.; Oyanagi, Kiyomitsu; Craig, Ulla-Katrina; Bird, Thomas D.; Wijsman, Ellen M.; Galasko, Douglas R.; Schellenberg, Gerard D.

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Neuronal vulnerability of CLN3 deletion to calcium-induced cytotoxicity is mediated by calsenilin

Chang, Jae-Woong; Choi, Hyunwoo; Kim, Hyun-Ji; Jo, Dong-Gyu; Jeon, Young-Jun; Noh, Jee-Yeon; Park, Woo Jin; Jung, Yong-Keun

Follow Human Molecular Genetics , Volume 16 (3) Oxford University Press – Feb 1, 2007

Human Molecular Genetics Volume 16 Issue 3

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor

Follow Human Molecular Genetics , Volume 16 (3) Oxford University Press – Feb 1, 2007

Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y

Follow Human Molecular Genetics , Volume 16 (3) Oxford University Press – Feb 1, 2007

The 22q11 deletion syndrome candidate gene Tbx1 determines thyroid size and positioning

Fagman, H.; Liao, J.; Westerlund, J.; Andersson, L.; Morrow, B.E.; Nilsson, M.

Follow Human Molecular Genetics , Volume 16 (3) Oxford University Press – Feb 1, 2007

Sex-specific linkage to total serum immunoglobulin E in families of children with asthma in Costa Rica

Raby, Benjamin A.; Soto-Quiros, Manuel E.; Avila, Lydiana; Lake, Stephen L.; Murphy, Amy; Liang, Catherine; Fournier, Eduardo; Spesny, Mitzi; Sylvia, Jody S.; Verner, Andrei; Hudson, Thomas J.; Klanderman, Barbara J.; Freimer, Nelson B.; Silverman, Edwin K.; Celedón, Juan C.

Follow Human Molecular Genetics , Volume 16 (3) Oxford University Press – Feb 1, 2007

Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour

Sparago, Angela; Russo, Silvia; Cerrato, Flavia; Ferraiuolo, Serena; Castorina, Pierangela; Selicorni, Angelo; Schwienbacher, Christine; Negrini, Massimo; Ferrero, Giovanni Battista; Silengo, Margherita Cirillo; Anichini, Cecilia; Larizza, Lidia; Riccio, Andrea

Follow Human Molecular Genetics , Volume 16 (3) Oxford University Press – Feb 1, 2007

SGCE missense mutations that cause myoclonus-dystonia syndrome impair ϵ-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA

Esapa, Christopher T.; Waite, Adrian; Locke, Matthew; Benson, Matthew A.; Kraus, Michaela; McIlhinney, R.A. Jeffrey; Sillitoe, Roy V.; Beesley, Philip W.; Blake, Derek J.

Follow Human Molecular Genetics , Volume 16 (3) Oxford University Press – Feb 1, 2007

A CTCF-binding silencer regulates the imprinted genes AWT1 and WT1-AS and exhibits sequential epigenetic defects during Wilms' tumourigenesis

Hancock, Anne L.; Brown, Keith W.; Moorwood, Kim; Moon, Hanlim; Holmgren, Claes; Mardikar, Sudhanshu H.; Dallosso, Anthony R.; Klenova, Elena; Loukinov, Dmitri; Ohlsson, Rolf; Lobanenkov, Victor V.; Malik, Karim

Follow Human Molecular Genetics , Volume 16 (3) Oxford University Press – Feb 1, 2007

Age-dependent accumulation of mtDNA mutations in murine hematopoietic stem cells is modulated by the nuclear genetic background

Yao, Yong-Gang; Ellison, Felicia M.; McCoy, J. Philip; Chen, Jichun; Young, Neal S.

Follow Human Molecular Genetics , Volume 16 (3) Oxford University Press – Feb 1, 2007

Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia

Sundar, Purnima Desai; Yu, Chang-En; Sieh, Weiva; Steinbart, Ellen; Garruto, Ralph M.; Oyanagi, Kiyomitsu; Craig, Ulla-Katrina; Bird, Thomas D.; Wijsman, Ellen M.; Galasko, Douglas R.; Schellenberg, Gerard D.

Follow Human Molecular Genetics , Volume 16 (3) Oxford University Press – Feb 1, 2007

Neuronal vulnerability of CLN3 deletion to calcium-induced cytotoxicity is mediated by calsenilin

Chang, Jae-Woong; Choi, Hyunwoo; Kim, Hyun-Ji; Jo, Dong-Gyu; Jeon, Young-Jun; Noh, Jee-Yeon; Park, Woo Jin; Jung, Yong-Keun

Follow Human Molecular Genetics , Volume 16 (3) Oxford University Press – Feb 1, 2007

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Human Molecular Genetics Volume 16 Issue 3

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Follow Human Molecular Genetics , Volume 16 (3) Oxford University Press – Feb 1, 2007

Follow Human Molecular Genetics , Volume 16 (3) Oxford University Press – Feb 1, 2007

Fagman, H.; Liao, J.; Westerlund, J.; Andersson, L.; Morrow, B.E.; Nilsson, M.

Follow Human Molecular Genetics , Volume 16 (3) Oxford University Press – Feb 1, 2007

Raby, Benjamin A.; Soto-Quiros, Manuel E.; Avila, Lydiana; Lake, Stephen L.; Murphy, Amy; Liang, Catherine; Fournier, Eduardo; Spesny, Mitzi; Sylvia, Jody S.; Verner, Andrei; Hudson, Thomas J.; Klanderman, Barbara J.; Freimer, Nelson B.; Silverman, Edwin K.; Celedón, Juan C.

Follow Human Molecular Genetics , Volume 16 (3) Oxford University Press – Feb 1, 2007

Sparago, Angela; Russo, Silvia; Cerrato, Flavia; Ferraiuolo, Serena; Castorina, Pierangela; Selicorni, Angelo; Schwienbacher, Christine; Negrini, Massimo; Ferrero, Giovanni Battista; Silengo, Margherita Cirillo; Anichini, Cecilia; Larizza, Lidia; Riccio, Andrea

Follow Human Molecular Genetics , Volume 16 (3) Oxford University Press – Feb 1, 2007

Esapa, Christopher T.; Waite, Adrian; Locke, Matthew; Benson, Matthew A.; Kraus, Michaela; McIlhinney, R.A. Jeffrey; Sillitoe, Roy V.; Beesley, Philip W.; Blake, Derek J.

Follow Human Molecular Genetics , Volume 16 (3) Oxford University Press – Feb 1, 2007

Hancock, Anne L.; Brown, Keith W.; Moorwood, Kim; Moon, Hanlim; Holmgren, Claes; Mardikar, Sudhanshu H.; Dallosso, Anthony R.; Klenova, Elena; Loukinov, Dmitri; Ohlsson, Rolf; Lobanenkov, Victor V.; Malik, Karim

Follow Human Molecular Genetics , Volume 16 (3) Oxford University Press – Feb 1, 2007

Yao, Yong-Gang; Ellison, Felicia M.; McCoy, J. Philip; Chen, Jichun; Young, Neal S.

Follow Human Molecular Genetics , Volume 16 (3) Oxford University Press – Feb 1, 2007

Sundar, Purnima Desai; Yu, Chang-En; Sieh, Weiva; Steinbart, Ellen; Garruto, Ralph M.; Oyanagi, Kiyomitsu; Craig, Ulla-Katrina; Bird, Thomas D.; Wijsman, Ellen M.; Galasko, Douglas R.; Schellenberg, Gerard D.

Follow Human Molecular Genetics , Volume 16 (3) Oxford University Press – Feb 1, 2007

Chang, Jae-Woong; Choi, Hyunwoo; Kim, Hyun-Ji; Jo, Dong-Gyu; Jeon, Young-Jun; Noh, Jee-Yeon; Park, Woo Jin; Jung, Yong-Keun

Follow Human Molecular Genetics , Volume 16 (3) Oxford University Press – Feb 1, 2007